rs771427957
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a McArdle disease mutation |
(T;T) | 5 | McArdle disease (also known as glycogen storage disease type V) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 64751923 |
Gene | PYGM |
is a | snp |
is | mentioned by |
dbSNP | rs771427957 |
dbSNP (classic) | rs771427957 |
ClinGen | rs771427957 |
ebi | rs771427957 |
HLI | rs771427957 |
Exac | rs771427957 |
Gnomad | rs771427957 |
Varsome | rs771427957 |
LitVar | rs771427957 |
Map | rs771427957 |
PheGenI | rs771427957 |
Biobank | rs771427957 |
1000 genomes | rs771427957 |
hgdp | rs771427957 |
ensembl | rs771427957 |
geneview | rs771427957 |
scholar | rs771427957 |
rs771427957 | |
pharmgkb | rs771427957 |
gwascentral | rs771427957 |
openSNP | rs771427957 |
23andMe | rs771427957 |
SNPshot | rs771427957 |
SNPdbe | rs771427957 |
MSV3d | rs771427957 |
GWAS Ctlg | rs771427957 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs771427957(T;T) |
Alt | Rs771427957(T;T) |
Reference | Rs771427957(C;C) |
Significance | Pathogenic |
Disease | Glycogen storage disease not provided |
Variation | info |
Gene | PYGM |
CLNDBN | Glycogen storage disease, type V not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.64519395C>T |
CLNSRC | |
CLNACC | RCV000174750.1, RCV000423322.1, |